Canonical Allele Identifier: CA2586968811

Gene: OTOF

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.26475477_26475478del , CM000664.2:g.26475477_26475478del	GRCh38
NC_000002.11:g.26698345_26698346del , CM000664.1:g.26698345_26698346del	GRCh37
NC_000002.10:g.26551849_26551850del	NCBI36
NG_009937.1:g.88221_88222del

Transcript Alleles

HGVS	Amino-acid change
ENST00000272371.7:c.3007_3008del MANE Select	ENSP00000272371.2:p.Leu1003ValfsTer18
ENST00000339598.8:c.766_767del MANE Plus Clinical	ENSP00000344521.3:p.Leu256ValfsTer18
ENST00000402415.8:c.766_767del	ENSP00000383906.4:p.Leu256ValfsTer18
ENST00000272371.6:c.3007_3008del	ENSP00000272371.2:p.Leu1003ValfsTer18
ENST00000338581.10:c.766_767del	ENSP00000345137.6:p.Leu256ValfsTer18
ENST00000339598.7:c.766_767del	ENSP00000344521.3:p.Leu256ValfsTer18
ENST00000402415.7:c.937_938del	ENSP00000383906.3:p.Leu313ValfsTer18
ENST00000403946.7:c.3007_3008del	ENSP00000385255.3:p.Leu1003ValfsTer18
NM_001287489.1:c.3007_3008del	NP_001274418.1:p.Leu1003ValfsTer18
NM_004802.3:c.766_767del	NP_004793.2:p.Leu256ValfsTer18
NM_194248.2:c.3007_3008del	NP_919224.1:p.Leu1003ValfsTer18
NM_194322.2:c.937_938del	NP_919303.1:p.Leu313ValfsTer18
NM_194323.2:c.766_767del	NP_919304.1:p.Leu256ValfsTer18
XM_005264644.2:c.3052_3053del	XP_005264701.1:p.Leu1018ValfsTer18
XM_011533185.1:c.3052_3053del	XP_011531487.1:p.Leu1018ValfsTer18
XM_017005338.1:c.3007_3008del	XP_016860827.1:p.Leu1003ValfsTer18
NM_001287489.2:c.3007_3008del	NP_001274418.1:p.Leu1003ValfsTer18
NM_004802.4:c.766_767del	NP_004793.2:p.Leu256ValfsTer18
NM_194248.3:c.3007_3008del MANE Select	NP_919224.1:p.Leu1003ValfsTer18
NM_194322.3:c.937_938del	NP_919303.1:p.Leu313ValfsTer18
NM_194323.3:c.766_767del MANE Plus Clinical	NP_919304.1:p.Leu256ValfsTer18